Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon

S.M. Aukema; C.M. de Geus; S.G.F. Robben; K.J.A.F. van Kaam; H.M. Staal; A.M. Witlox; N.A.J. de la Haye; M. Klaassens; A. Coumans; A.P.A. Stegmann; D. Paley; C.T.R.M. Stumpel

doi:10.1002/ajmg.a.62600

Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon

S.M. Aukema^*, C.M. de Geus, S.G.F. Robben, K.J.A.F. van Kaam, H.M. Staal, A.M. Witlox, N.A.J. de la Haye, M. Klaassens, A. Coumans, A.P.A. Stegmann, D. Paley, C.T.R.M. Stumpel^*

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Original language	English
Pages (from-to)	1000-1004
Number of pages	5
Journal	American Journal of Medical Genetics Part A
Volume	188
Issue number	3
Early online date	11 Dec 2021
DOIs	https://doi.org/10.1002/ajmg.a.62600
Publication status	Published - Mar 2022

Keywords

LIMB ANOMALIES
CHD7
MUTATIONS
DEFICIENCY
DIAGNOSIS
INSIGHTS

Access to Document

10.1002/ajmg.a.62600

Cite this

Aukema, S. M., de Geus, C. M., Robben, S. G. F., van Kaam, K. J. A. F., Staal, H. M., Witlox, A. M., de la Haye, N. A. J., Klaassens, M., Coumans, A., Stegmann, A. P. A., Paley, D., & Stumpel, C. T. R. M. (2022). Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon. American Journal of Medical Genetics Part A, 188(3), 1000-1004. https://doi.org/10.1002/ajmg.a.62600

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title = "Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon",

keywords = "LIMB ANOMALIES, CHD7, MUTATIONS, DEFICIENCY, DIAGNOSIS, INSIGHTS",

author = "S.M. Aukema and {de Geus}, C.M. and S.G.F. Robben and {van Kaam}, K.J.A.F. and H.M. Staal and A.M. Witlox and {de la Haye}, N.A.J. and M. Klaassens and A. Coumans and A.P.A. Stegmann and D. Paley and C.T.R.M. Stumpel",

note = "Funding Information: The authors would like to thank the patient's parents for approving the publication of the data.",

year = "2022",

month = mar,

doi = "10.1002/ajmg.a.62600",

language = "English",

volume = "188",

pages = "1000--1004",

journal = "American Journal of Medical Genetics Part A",

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T1 - Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon

AU - Aukema, S.M.

AU - de Geus, C.M.

AU - Robben, S.G.F.

AU - van Kaam, K.J.A.F.

AU - Staal, H.M.

AU - Witlox, A.M.

AU - de la Haye, N.A.J.

AU - Klaassens, M.

AU - Coumans, A.

AU - Stegmann, A.P.A.

AU - Paley, D.

AU - Stumpel, C.T.R.M.

N1 - Funding Information: The authors would like to thank the patient's parents for approving the publication of the data.

PY - 2022/3

Y1 - 2022/3

KW - LIMB ANOMALIES

KW - CHD7

KW - MUTATIONS

KW - DEFICIENCY

KW - DIAGNOSIS

KW - INSIGHTS

U2 - 10.1002/ajmg.a.62600

DO - 10.1002/ajmg.a.62600

M3 - Comment/Letter to the editor

C2 - 34894067

SN - 1552-4825

VL - 188

SP - 1000

EP - 1004

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 3

ER -